Millions of people around the world may have the blood disease called haemochromatosis, or the gene mutation that leads to it — and yet, relatively few are likely to know it.
Haemochromatosis, a disorder marked by increased amounts of iron in the blood and liver, has something in common with most diseases: Patients benefit when it is caught early. For people with haemochromatosis, that means before the disease makes them feel sick or weak, or experience abdominal or joint pain. In the long run, haemochromatosis can lead to arthritis, cirrhosis, heart disease, Type 2 diabetes, and certain forms of cancer, if left untreated.
Now, a breakthrough in Australia offers hope of avoiding such gloomy outcomes.
With a goal of reaching more sufferers of the disease earlier, a researcher at Edith Cowan University has devised an approach that can aid in detecting it among a large swath of the Australian population. Used by tapping into the Full Blood Count — a standard measure that physicians worldwide routinely order to diagnose a range of health problems — the discovery can determine who might have haemochromatosis.
“The Full Blood Count is one of the commonest blood tests on the planet,” says John Olynyk, the project’s leader, and dean of clinical studies at Edith Cowan University. “It’s something we felt we could take advantage of.”
Olynyk, an international expert in liver disease and Hereditary Haemochromatosis, previously designed the High Ferritin App with colleagues at the Australian Red Cross Blood Service – an online referral tool that assists clinicians in the identification and appropriate treatment of Hereditary Haemochromatosis and which is now the standard of care in Australia. He has now developed a method for using results contained in the routine Full Blood Count so patients in the Australia and other countries with populations of northern European origin can be evaluated for haemochromatosis.
Because the application of treatment has been “patchy,” Olynyk says, improving the diagnosis of haemochromatosis presented a chance for him and his researchers to aid public health while saving the country some money.
“We’ve tried to find that sweet spot where we can find a high number of people who have the disease and a relative few who don’t,” says Olynyk. “If we tested everyone, we’d incur a lot of unrewarded cost to the health system. This approach based on better application of routine results reported every day in the full blood count, and often ignored, is an affordable way to find people and refer them for further testing.”
The new discovery based on the Full Blood Count detection brings some benefit to the greater public as well, he adds. As part of their treatment, haemochromatosis patients go through therapeutic blood draws every three months to lessen the toll that iron-rich blood can take on their overall health. With more cases of haemochromatosis diagnosed, more donated blood will be available for people suffering medical emergencies.
But most important, it gives medical doctors a chance to get ahead of the disease.
Olynyk, has been tracking down the characteristics of haemochromatosis for decades. In 1999, he led the research team that described the first study of the population clinical penetrance the gene mutation behind the disease. Since then, his focus has been on finding ways to reach people before they are diagnosed clinical complications of the disease — a scenario that is all too common, he says.
Olynyk and his research team built upon findings from an American study conducted 20 or so years ago — findings “that had lain there silently,” Olynyk says. American researchers had learned that red blood cells in people with haemochromatosis featured more haemoglobin, a protein responsible for transporting oxygen throughout the body.
There are approximately 12,000 haemochromatosis sufferers in Australia, and it is estimated that millions of Caucasians around the world may carry the disease. They all share a background that includes northern European or Irish ancestry. About 1 percent of people with Irish blood will develop the disease, about twice the rate of northern Europeans.
The disease has been around for 5,000 years or more, and was first observed in patients in the 19th century, and designated as a disease in the last one.
Now, finally, it appears that it can be uncovered early, and possibly at no additional cost outlay for screening. The new approach is flagging undetected patients at a rate of about 1 in seven people who are tested — a much more cost-effective way to identify them than giving blood tests to anyone who fits the ancestral profile.
Even though the Full Blood Test has been key in ramping up new diagnoses in Australia, Olynyk continues to search for ways to use his app around the world.
“This has global implications,” he adds. “The discovery we have made can be very useful in any countries that contain notable populations of northern Europeans.”
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